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The non-profit Rare Genomics Institute (RG) helps provide rare disease patients with access to cutting-edge molecular biotechnology and analytical expertise with the potential to uncover new directions for research, treatment, and support. As volunteer analysts for RG, we analyzed the exome sequence data of patients with as-yet undiagnosed diseases with a suspected underlying genetic cause.

Disclaimer: RG connects patients to research institutions and assists with logistics and fundraising, but we cannot provide medical advice. Please consult your physician if you have any medical questions, or call 911 in an emergency situation.